Genetic test for coeliac disease HLA, DQ2 and DQ8

There are no requirements for this test, no need to fast. Neither is an appointment necessary, blood draws are performed from 8:00h – 10:30h from Monday to Friday.

The results are delivered from 3 weeks to 30 days.

This analysis allows us to determine, by means of genetic typing, if you are susceptible to coeliac disease.

Celiac disease is a systemic immune disorder related to exposure, mainly to gluten, in individuals who are genetically susceptible.

It is characterized by:

  • a variable combination of gluten-dependent clinical symptoms
  • the presence of antibodies specific to coeliac disease
  • the haplotypes HLA-DQ2 or HLA-DQ8
  • enteropathy

The specific antibodies of the celiac disease, comprise auto-antibodies against tissue transglutaminase type 2 (TG2), including endomysial antibodies (EMA), and antibodies against deaminating forms of gliadin peptides (DGP).

The perception of celiac disease has changed from a rare enteropathy to a common multi-organ disease with a strong genetic predisposition, which is mainly associated with the human leukocyte antigen HLA-DQ2 and HLA-DQ8. Therefore, the diagnosis of celiac disease has been modified, as a result of the availability of specific antibody tests for celiac disease, mainly based on TG2, and specific genetic tests for the human leukocyte antigens HLA-DQ2 and HLA-DQ8.

Typing of HLA-DQ2 and HLA-DQ8 haplotypes is a useful tool to exclude celiac disease, or to confirm it in patients with a doubtful diagnosis, for example, in patients with negative antibodies to celiac disease, and who show in small intestine biopsies slight infiltrating changes in the proximal regions.

In children in whom there is strong clinical suspicion, and high serum levels of specific antibodies to celiac disease are detected, but small bowel biopsies are not to be performed, then typing of HLA-DQ2 and HLA-DQ8 is recommended, giving greater certainty to the clinical diagnosis.

The genetic analysis of HLA should be performed on asymptomatic people with conditions associated with celiac disease (group 2), in order to select them for subsequent analysis of serum antibodies to celiac disease.